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Gene | JAK3 |
Variant | T8M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 T8M lies within the cytokine/interferon/growth hormone receptor-interacting region of the Jak3 protein (UniProt.org). T8M has been identified in sequencing studies (PMID: 24728327, PMID: 23153540), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 T8M |
Transcript | NM_000215.4 |
gDNA | chr19:g.17844395G>A |
cDNA | c.23C>T |
Protein | p.T8M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011527991.3 | chr19:g.17844395G>A | c.23C>T | p.T8M | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17844395G>A | c.23C>T | p.T8M | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17844395G>A | c.23C>T | p.T8M | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17844395G>A | c.23C>T | p.T8M | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17844395G>A | c.23C>T | p.T8M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK3 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |